Autosomal Recessive Congenital Cerebellar Ataxia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Autosomal Recessive Congenital Cerebellar Ataxia

MalaCards integrated aliases for Autosomal Recessive Congenital Cerebellar Ataxia:

Name: Autosomal Recessive Congenital Cerebellar Ataxia ⁵⁹

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

Orphanet ⁵⁹ ORPHA98095

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Summaries for Autosomal Recessive Congenital Cerebellar Ataxia

MalaCards based summary : Autosomal Recessive Congenital Cerebellar Ataxia is related to spinocerebellar ataxia, autosomal recessive 13 and spinocerebellar ataxia, autosomal recessive 18. An important gene associated with Autosomal Recessive Congenital Cerebellar Ataxia is AP3B2 (Adaptor Related Protein Complex 3 Subunit Beta 2).

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Related Diseases for Autosomal Recessive Congenital Cerebellar Ataxia

Diseases in the Autosomal Dominant Cerebellar Ataxia family:

Autosomal Recessive Cerebellar Ataxia	Congenital Cerebellar Ataxia Due to Rnu12 Mutation
Autosomal Recessive Cerebellar Ataxia Due to a Dna Repair Defect	Autosomal Recessive Congenital Cerebellar Ataxia
Autosomal Dominant Cerebellar Ataxia Type I	Autosomal Dominant Cerebellar Ataxia Type Iii
Autosomal Dominant Cerebellar Ataxia Type Iv

Diseases related to Autosomal Recessive Congenital Cerebellar Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	spinocerebellar ataxia, autosomal recessive 13	11.9
2	spinocerebellar ataxia, autosomal recessive 18	11.6
3	ataxia and polyneuropathy, adult-onset	10.3
4	aceruloplasminemia	10.3
5	galloway-mowat syndrome 1	10.1
6	3-methylglutaconic aciduria, type iii	10.1
7	hereditary ataxia	10.1
8	galloway-mowat syndrome	10.1
9	tremor	10.1

Graphical network of the top 20 diseases related to Autosomal Recessive Congenital Cerebellar Ataxia:

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Symptoms & Phenotypes for Autosomal Recessive Congenital Cerebellar Ataxia

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Drugs & Therapeutics for Autosomal Recessive Congenital Cerebellar Ataxia

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Congenital Cerebellar Ataxia

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Genetic Tests for Autosomal Recessive Congenital Cerebellar Ataxia

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Anatomical Context for Autosomal Recessive Congenital Cerebellar Ataxia

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Publications for Autosomal Recessive Congenital Cerebellar Ataxia

Articles related to Autosomal Recessive Congenital Cerebellar Ataxia:

#	Title	Authors	PMID	Year
1	Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. ³⁸	Walker MA...Blumkin L	31168944	2019
2	Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1. ³⁸	Guergueltcheva V...Kalaydjieva L	22901947	2012
3	CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. ³⁸	Nicolas E...Delague V	20531441	2010
4	Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous Lebanese family. ³⁸	Delague V...Claustres M	11506409	2001

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Genes for Autosomal Recessive Congenital Cerebellar Ataxia

Genes related to Autosomal Recessive Congenital Cerebellar Ataxia (0 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	AP3B2	Adaptor Related Protein Complex 3 Subunit Beta 2	Protein Coding	17.36	GeneCards inferred via : Publications (show sections)
2	EFL1	Elongation Factor Like GTPase 1	Protein Coding	17.36	GeneCards inferred via : Publications (show sections)
3	GRM1	Glutamate Metabotropic Receptor 1	Protein Coding	17.36	GeneCards inferred via : Publications (show sections)
4	HMG20A	High Mobility Group 20A	Protein Coding	17.36	GeneCards inferred via : Publications (show sections)
5	HOMER2	Homer Scaffold Protein 2	Protein Coding	17.36	GeneCards inferred via : Publications (show sections)
6	SH3GL3	SH3 Domain Containing GRB2 Like 3, Endophilin A3	Protein Coding	17.36	GeneCards inferred via : Publications (show sections)
7	ZNF592	Zinc Finger Protein 592	Protein Coding	17.36	GeneCards inferred via : Publications (show sections)
8	BTBD1	BTB Domain Containing 1	Protein Coding	7.36	GeneCards inferred via : Publications (show sections)
9	MEX3B	Mex-3 RNA Binding Family Member B	Protein Coding	7.36	GeneCards inferred via : Publications (show sections)
10	SCAND2P	SCAN Domain Containing 2 Pseudogene	Pseudogene	7.36	GeneCards inferred via : Publications (show sections)
11	ZFP64	ZFP64 Zinc Finger Protein	Protein Coding	7.36	GeneCards inferred via : Publications (show sections)
12	ZSCAN2	Zinc Finger And SCAN Domain Containing 2	Protein Coding	7.36	GeneCards inferred via : Publications (show sections)

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Variations for Autosomal Recessive Congenital Cerebellar Ataxia

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Expression for Autosomal Recessive Congenital Cerebellar Ataxia

Search GEO for disease gene expression data for Autosomal Recessive Congenital Cerebellar Ataxia.

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Pathways for Autosomal Recessive Congenital Cerebellar Ataxia

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GO Terms for Autosomal Recessive Congenital Cerebellar Ataxia

Cellular components related to Autosomal Recessive Congenital Cerebellar Ataxia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	P-body	GO:0000932	8.96	MEX3B BTBD1
2	glutamatergic synapse	GO:0098978	8.8	SH3GL3 HOMER2 GRM1

Biological processes related to Autosomal Recessive Congenital Cerebellar Ataxia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	G protein-coupled glutamate receptor signaling pathway	GO:0007216	8.62	HOMER2 GRM1

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Sources for Autosomal Recessive Congenital Cerebellar Ataxia

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